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MS

Mark Stephan

Pediatrics

Credentials: ·

History

Pediatrics

Research

Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1
Chest · 2013 · 134 citations
Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases
Case report · American Journal of Medical Genetics · 1987 · 119 citations
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
Human Mutation · 2010 · 97 citations

JH
Jacob Hogue
2 papers
JG
John Graham
2 papers
KG
Karen Gripp
2 papers
RP
Roberta Pagon
2 papers
Aaron Hamvas
1 paper
AS
Allison Schreiber
1 paper
Angela Lin
1 paper
AL
Angie Lichty
1 paper
AH
Ann Halbower
1 paper
Anna Mitchell
1 paper
BG
Benjamin Garren
1 paper · 1 as a fellow
Benjamin Planer
1 paper